Canonical Allele Identifier: CA413308105
Gene: AMER1 HGNC NCBI

Linked Data

dbSNP Id: rs2147088716
MyVariant Identifiers: chrX:g.63411900G>C (hg19) chrX:g.64192020G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.64192020G>C , CM000685.2:g.64192020G>C GRCh38
NC_000023.10:g.63411900G>C , CM000685.1:g.63411900G>C GRCh37
NC_000023.9:g.63328625G>C NCBI36
NG_021345.1:g.18725C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374869.8:c.1267C>G MANE Select ENSP00000364003.4:p.Leu423Val
ENST00000330258.3:c.1267C>G ENSP00000329117.3:p.Leu423Val
ENST00000374869.7:c.1267C>G ENSP00000364003.3:p.Leu423Val
NM_152424.3:c.1267C>G NP_689637.3:p.Leu423Val
XM_011530858.1:c.1267C>G XP_011529160.1:p.Leu423Val
NM_152424.4:c.1267C>G MANE Select NP_689637.3:p.Leu423Val
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